Linked Data
ClinVar Variation Id:
47309
ClinVar RCV Id:
RCV000040579
RCV000172642
RCV001084590
RCV001133157
RCV001133159
RCV001133161
RCV001133158
RCV001133160
RCV002326758
dbSNP Id:
rs146767076
ExAC:
2:179438722 G / A
gnomAD v2:
2-179438722-G-A
gnomAD v3:
2-178573995-G-A
gnomAD v4:
2-178573995-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573995G>A , CM000664.2:g.178573995G>A | GRCh38 |
| NC_000002.11:g.179438722G>A , CM000664.1:g.179438722G>A | GRCh37 |
| NC_000002.10:g.179146968G>A | NCBI36 |
| NG_011618.3:g.261808C>T , LRG_391:g.261808C>T | |
| NG_051363.1:g.56169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64433C>T (TTN) | ENSP00000343764.6:p.Ala21478Val | |
| ENST00000342175.11:c.45518C>T (TTN) | ENSP00000340554.6:p.Ala15173Val | |
| ENST00000359218.10:c.45317C>T (TTN) | ENSP00000352154.5:p.Ala15106Val | |
| ENST00000342175.10:c.45518C>T (TTN) | ENSP00000340554.6:p.Ala15173Val | |
| ENST00000342992.10:c.64433C>T (TTN) | ENSP00000343764.6:p.Ala21478Val | |
| ENST00000359218.9:c.45317C>T (TTN) | ENSP00000352154.5:p.Ala15106Val | |
| ENST00000460472.6:c.44942C>T (TTN) | ENSP00000434586.1:p.Ala14981Val | |
| ENST00000589042.5:c.72137C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala24046Val | |
| ENST00000591111.5:c.67214C>T (TTN) | ENSP00000465570.1:p.Ala22405Val | |
| ENST00000615779.4:c.67214C>T (TTN) | ENSP00000483597.1:p.Ala22405Val | |
| NM_001256850.1:c.67214C>T (TTN) | NP_001243779.1:p.Ala22405Val | |
| NM_001267550.2:c.72137C>T (TTN) MANE Select | NP_001254479.2:p.Ala24046Val | |
| NM_003319.4:c.44942C>T (TTN) | NP_003310.4:p.Ala14981Val | |
| NM_133378.4:c.64433C>T (TTN) | NP_596869.4:p.Ala21478Val | |
| NM_133432.3:c.45317C>T (TTN) | NP_597676.3:p.Ala15106Val | |
| NM_133437.4:c.45518C>T (TTN) | NP_597681.4:p.Ala15173Val | |
| NR_038271.1:n.596+2546G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-8577G>A (TTN-AS1) | ||
| XM_011511729.1:c.71234C>T (TTN) | XP_011510031.1:p.Ala23745Val | |
| XM_011511730.1:c.45128C>T (TTN) | XP_011510032.1:p.Ala15043Val | |
| XM_011511731.1:c.44987C>T (TTN) | XP_011510033.1:p.Ala14996Val | |
| XM_017004819.1:c.71030C>T (TTN) | XP_016860308.1:p.Ala23677Val | |
| XM_017004820.1:c.66428C>T (TTN) | XP_016860309.1:p.Ala22143Val | |
| XM_017004821.1:c.66425C>T (TTN) | XP_016860310.1:p.Ala22142Val | |
| XM_017004822.1:c.63467C>T (TTN) | XP_016860311.1:p.Ala21156Val | |
| XM_017004823.1:c.45083C>T (TTN) | XP_016860312.1:p.Ala15028Val | |
| XM_024453094.1:c.66578C>T (TTN) | XP_024308862.1:p.Ala22193Val | |
| XM_024453095.1:c.66575C>T (TTN) | XP_024308863.1:p.Ala22192Val | |
| XM_024453096.1:c.66008C>T (TTN) | XP_024308864.1:p.Ala22003Val | |
| XM_024453097.1:c.63350C>T (TTN) | XP_024308865.1:p.Ala21117Val | |
| XM_024453098.1:c.63269C>T (TTN) | XP_024308866.1:p.Ala21090Val | |
| XM_024453099.1:c.45032C>T (TTN) | XP_024308867.1:p.Ala15011Val | |
| XM_024453100.1:c.34886C>T (TTN) | XP_024308868.1:p.Ala11629Val |